biobanksMost children born at hospitals in the U.S. over the past 50 years have been subjected to a test known as the Newborn Genetic Screening Test, which involves a “heel prick” to collect a blood sample on a special card. These blood samples are then tested for multiple congenital (i.e., inherited) disorders to ensure the baby is healthy at birth. But what happens to the samples, which contain your child’s DNA, after the screening has been completed? You may be surprised to know that state-run biobanks may be storing these blood spot samples, and some of them may be sharing your child’s DNA without your consent. Furthermore, as these tests have been performed for many decades, it’s possible that your own samples are out there without your knowledge or consent.

If you’re surprised by this information, you’re not alone. It’s not unheard of for parents to not know that their child underwent this newborn screening program, and it’s even unlikelier for parents to know what happened to the test’s residual blood spots. If the screening test has slipped under your radar like it has for many others, it may be good to learn more about what may have happened to the tests’ samples – even if it’s been years since your child’s birth, as dismissing your child’s residual blood spots as a thing of the past may be detrimental to your youngster’s privacy. As it turns out, many states have created biobanks that store these samples which contain your child’s genetic material, and some of these samples are being used and shared with others – even law enforcement – for research and analysis. Keep reading to learn more about how and why biobanks may be storing and using your child’s genetic information, the controversies surrounding that use and storage and what rights you have.

How and why is your child’s DNA being stored?

It starts with the Newborn Genetic Screening test

It all started with the inception of the Newborn Genetic Screening test, which found its way to the forefront in the 1960s when it was used to detect phenylketonuria (PKU), a genetic disorder that causes brain damage, among other symptoms, but can be treated if caught early on. Today, by administering a single heel prick to a baby within 24 to 48 hours after birth, collecting the newborn’s blood on a special filter card and then testing the blood spots for congenital disorders, states can screen for at least 30 (and upward of 50 or more) genetic conditions to ensure your child doesn’t have them. The test is widely viewed as a life-saving one: it’s estimated that about 12,500 newborns each year are diagnosed, with many lives saved or improved as a result.

Newborn screening programs are currently run on the state level, not the federal level, and they are legally required. Because of the legal requirement, participation in newborn screening programs generally doesn’t need parental consent, but most states allow parents to opt out “without punitive action,” so parents can decline the test for philosophical or religious reasons. That said, it has not always been standard for hospitals to inform parents, and many don’t even know their newborns have been tested – which makes it rather difficult for them to exercise their option to opt out.

Where is your child’s DNA stored and for how long?

Different states have different policies in regard to how residual blood spots are stored, but in most states, the blood spots end up being housed in state-run biobanks. Whether parental consent is needed for the storage of samples or not depends on the state. In some states, parents receive the opportunity to provide informed consent before their child’s residual blood spots are stored. For others, including California, getting the test for your child means that the state gets to collect and store the residual blood spots. Some states destroy this genetic material after six months to a year, but others store it for much longer periods of time – anywhere from 21 years to, in the case of four states, indefinitely.

How are these residual blood spots used?

Given DNA privacy concerns that have been brought to the table recently – partly instigated by the case involving the Golden State Killer and his identification through genealogy and DNA testing websites, it shouldn’t be a surprise that the subject of newborn DNA collection through residual blood spots has parents concerned. Different states have different guidelines regarding what residual blood spots can be used for, but generally speaking, reasons for residual blood spot storage can include the following: research purposes (e.g., retesting blood spots to reconfirm newborn screening results, developing new newborn screening tests and forensic studies), quality control purposes and access by those who aren’t biobank-employed lab technicians (e.g., law enforcement). Even if your state doesn’t extract and analyze your child’s DNA from residual blood spots, outside researchers may still be able to do so. It may be difficult to predict what future research and residual blood spot research holds in store, but because of the aforementioned reasons, it may be beneficial to try to find out what your child’s residual blood spots are being used for. To help you understand these various purposes more, we’re going in-depth on what they mean.

Research purposes

Residual blood spots are primarily used by the labs that store them to identify new diseases and improve existing newborn screening tests, potentially allowing more babies to be saved. Residual blood spots can also act as a sample population for researchers that’s difficult to get otherwise, and the ability to analyze DNA from dried blood spots has increased the potential of residual blood spots to be used for research – both inside and outside newborn screening programs.

It’s also good to note that it’s not just state researchers who may have access to residual blood spots. Based on a report by CNN, as long as a name isn’t attached to the residual blood spot samples (i.e., they’ve been de-identified), some researchers may not need parental consent to receive them, depending on the state. Outside researchers who undergo a stringent process to request and use samples may be able to access the blood spots as well, often for a fee.

Law enforcement purposes

As noted, each state has a different policy regarding the availability of residual blood spots for use in research unrelated to newborn screening programs. According to a CBS report, some residual blood spots have found their way into the hands of law enforcement. In its investigations, CBS discovered at least five search warrants and four court orders that law enforcement obtained for identified blood spots. One of the cases involved a law enforcement request to test a child’s blood for drugs at birth. Other parties may request blood spots as well; CBS goes on to report that coroners use residual blood spots to identify bodies, and there’s also been at least one parent who’s requested a child’s residual blood spots to prove paternity through the court system.

The controversies surrounding the use of this genetic material

Now that you understand how this DNA is collected, where it’s stored and who has access to it, you might be wondering what the big deal is. There are a few key controversies surrounding these residual blood spots, which include …

Parents aren’t always asked to consent to screening

While it can be easy for any communications about the screening test to be forgotten in the tumult of childbirth and labor, many parents aren’t notified about the screening test at all. Because the test is legally required, it doesn’t require parental consent, so it’s frequently carried out without obtaining this consent. Given all this, it’s no surprise that few parents are aware that their babies have received a newborn screening test. The sub-optimal communication to parents about the screening program has created a variety of challenges over the years.

There are a number of cases which illustrate the kinds of challenges that can crop up when parental consent isn’t obtained. For example, the previously mentioned CNN report noted one such case that involved a child testing positive for a cystic fibrosis gene. The newborn screening test was administered without her parents’ consent, and they were surprised and concerned to learn that doctors had undisclosed access to their child’s genetic material. The child ended up undergoing further testing, and it turned out she didn’t have the disease, which, while a relief for the parents, also brought forth new concerns that their child has a black mark on her medical records.

While The Genetic Information Nondiscrimination Act of 2008 exists to protect individuals from genetic discrimination by the health insurance sector, critics have pointed out that the act has loopholes. Since health insurance paid for the child’s screening, the positive test may currently be on a record with the insurance company. One of the child’s parents said that if the hospital had first asked for her consent to test her child, she might have decided to pay for the test herself without the insurance company’s assistance. That way, the insurance company wouldn’t have the record, be privy to her daughter’s genetic information or have any opportunity to use it against her in the future.

Questions regarding the ethics of research using residual blood spots

While the ability to extract and analyze genetic information from dried blood spots may have bettered research on improving the testing they originated from, some questions have been raised regarding the use of these samples in studies. For one, the ability to conduct genetic research on residual blood spots has sparked concerns – primarily regarding the use of residual blood spots in research and the storage of them. It’s been pointed out that while DNA can be extracted from dried blood spots, the DNA’s quality depends on storage conditions. Concerns have also been raised regarding whether or not it’s ethical to use “leftover” blood spots for research in the first place, particularly for genetic studies. According to a paper written by researchers Beth Tarini and John Lantos, some even fear that residual blood spot research, “is a mechanism for government control of its citizens.”

Can the DNA truly be de-identified?

When it comes to the storage of residual blood spots, a concept to think deeply about is the idea of “de-identified DNA.” Various sources stress that residual blood spots are “de-identified,” meaning that names and medical information aren’t attached to their respective stored filter cards before sharing them with researchers. As cited in the previously noted CBS article, at times the blood spots may also be de-identified when they’re being stored. In California, for example, the identifying information corresponding with each card is stored in a separate building. In fact, the state microfiches blood spots after a few years, and the information is not kept on a server or stored in a genome database – a database that California doesn’t have.

However, others argue that despite these de-identification measures, genetic information can’t be completely de-identified at this time. Some claim that DNA, by nature, corresponds with and embodies an individual’s unique code, so it can always be used to identify individuals. Studies have also demonstrated that it’s possible to identify research participants based on “anonymized DNA.”

What rights do parents and children have?

Your rights and the ownership of these residual blood spots may vary, depending on the state you reside in. Some states declare that the residual blood spots are state property and can be used as the state sees fit, while others afford them more protections – for example, Oklahoma prohibits blood spot usage for research purposes without parental consent. In some states, such as Minnesota, parents can request the destruction of their child’s test results and residual blood spots. To learn more about what you can do about your child’s sample (or your own, if you live in a state that keeps them for a long period of time), make sure to read up on your state’s policies and procedures.

Remember, the policies and laws can change

It’s also important to note that state – and federal – policies may change. Take the case of Texas, for example. Texas had been destroying residual blood spot samples after newborn screenings, but in 2002, the state started donating its samples to researchers – without first notifying parents about this rule change. Five families sued the Texas Department of State Health Services (DSHS) and Texas A&M University. As part of the agreement that was made after the case was settled out of court, the DSHS disclosed the research projects that were on the receiving end of the blood spot samples. Because of this, it came to light that the DSHS was “appropriately reimbursed” by pharmaceutical companies after it had loaned blood spots to them. After the DSHS was sued yet again, garnering more problematic publicity, Texas ended up destroying millions of blood spot samples. Texas now requires parents to be asked to opt in to the newborn screening program, and the state also requires disclosure if blood spots are being shared with others. Moral of the story? Because state policies can change, to prevent yourself from being surprised by any unexpected revisions, make sure you stay up-to-date with your state’s newborn screening retention policies.

It is also possible for federal law to change, and there’s potential for a sweeping law to come that would negate the individual policies held by states for use of DNA collected from newborns. In fact, just a few years ago, in 2014, President Obama signed into law the Newborn Screening Saves Lives Reauthorization Act, which includes a number of measures to ensure quick diagnosis of deadly yet treatable disorders. It also emphasizes informed consent, establishing a parental consent requirement before any residual blood spots are used in federally-funded research. Finally, the act recognizes this research as “human subjects” research, which affords other rights to these samples that non-human subjects research does not.

As technology in the realm of DNA testing continues to improve, it’s likely more privacy issues like that of biobanks storing your child’s DNA will come to light. You can learn more about what you can do to protect the privacy of your family and yourself by following our privacy blog.